Molecular genetic diagnosis of a heterozygous form of familial hypercholesterolemia at a young age: a clinical case
https://doi.org/10.52727/2078-256X-2022-18-1-76-80
Abstract
Patients with familial hypercholesterolemia should be monitored throughout life, starting at an early age, since high levels of low-density lipoprotein cholesterol from birth and its cumulative effect play a significant role in the early development of complications of the atherosclerotic process. A clinical case of familial heterozygous hypercholesterolemia, first diagnosed in a patient at the age of 16, is described. As part of the cascade screening, the patient’s parents were examined. A molecular genetic study of DNA revealed the substitution rs879254721 NM_000527.5(LDLR):c.922G>A (p.Glu308Lys) in the LDLR gene in the proband and in the proband’s mother in the heterozygous variant. Regardless of the availability of molecular genetic testing, all families with familial hypercholesterolemia require ongoing lifelong follow-up and focused clinical evaluation.
Supporting agencies: The work was carried out withen the framework of the state task FWNR-2022-0003.
About the Authors
О. V. Timoshchenko
Federal State Budgetary Institution of Science Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences; Research Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
Olga V. Timoshchenko, junior researcher, laboratory of molecular genetic studies of therapeutic diseases, cardiologist
630090, Novosibirsk, Akademik Lavrentiev av., 10
630089, Novosibirsk, Boris Bogatkov str., 175/1
D. E. Ivanoshchuk
Federal State Budgetary Institution of Science Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences; Research Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
Dinara E. Ivanoshchuk, junior researcher in the laboratory of human molecular genetics; researcher in the laboratory of molecular genetic investigations of therapeutic diseases
630090, Novosibirsk, Akademik Lavrentiev av., 10
630089, Novosibirsk, Boris Bogatkov str., 175/1
S. E. Semaev
Federal State Budgetary Institution of Science Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences; Research Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
Sergey E. Semaev, researcher laboratory of molecular genetic studies of therapeutic diseases
630090, Novosibirsk, Akademik Lavrentiev av., 10
630089, Novosibirsk, Boris Bogatkov str., 175/1
L. D. Latyntseva
Research Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
Lyudmila D. Latyntseva, Ph.D. honey. sciences, head. department of internal medicine, senior researcher, laboratory of emergency cardiology
630089, Novosibirsk, Boris Bogatkov str., 175/1
E. V. Shakhtshneider
Federal State Budgetary Institution of Science Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences; Research Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences
Russian Federation
Russian Federation
Elena V. Shakhtshneider, PhD, MD, head of the laboratory monogenic form of common diseases
630090, Novosibirsk, Akademik Lavrentiev av., 10
630089, Novosibirsk, Boris Bogatkov str., 175/1
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Review
For citations:
Timoshchenko О.V., Ivanoshchuk D.E., Semaev S.E., Latyntseva L.D., Shakhtshneider E.V. Molecular genetic diagnosis of a heterozygous form of familial hypercholesterolemia at a young age: a clinical case. Ateroscleroz. 2022;18(1):76-80. (In Russ.) https://doi.org/10.52727/2078-256X-2022-18-1-76-80
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